Canonical Allele Identifier: CA769593278

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1212285196
• gnomAD v3: 2-48725577-A-G
• gnomAD v4: 2-48725577-A-G
• MyVariant Identifiers: chr2:g.48952716A>G (hg19) ; chr2:g.48725577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48725577A>G , CM000664.2:g.48725577A>G	GRCh38
NC_000002.11:g.48952716A>G , CM000664.1:g.48952716A>G	GRCh37
NC_000002.10:g.48806220A>G	NCBI36
NG_008193.1:g.35165T>C
NG_033050.1:g.200653A>G
NG_008193.2:g.35165T>C
NG_033050.2:g.200653A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.383+99T>C (LHCGR) MANE Select	ENSP00000294954.6:n.383+99T>C
ENST00000294954.11:c.383+99T>C (LHCGR)	ENSP00000294954.6:n.383+99T>C
ENST00000401907.5:c.383+99T>C (LHCGR)	ENSP00000385406.1:n.383+99T>C
ENST00000402114.6:c.3442-50703A>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-50703A>G
ENST00000403273.5:c.383+99T>C (LHCGR)	ENSP00000385847.1:n.383+99T>C
ENST00000405626.5:c.383+99T>C (LHCGR)	ENSP00000386033.1:n.383+99T>C
ENST00000428232.2:c.281+99T>C (LHCGR)	ENSP00000403748.1:n.281+99T>C
ENST00000508440.1:c.277-7316A>G (GTF2A1L)	ENSP00000421474.1:n.277-7316A>G
ENST00000602369.3:c.308+99T>C	ENSP00000473498.1:n.308+99T>C
NM_000233.3:c.383+99T>C (LHCGR)	NP_000224.2:n.383+99T>C
NM_001198593.1:c.3442-50703A>G (STON1-GTF2A1L)	NP_001185522.1:n.3442-50703A>G
XM_011532828.1:c.308+99T>C (LHCGR)	XP_011531130.1:n.308+99T>C
XM_011532829.1:c.308+99T>C (LHCGR)	XP_011531131.1:n.308+99T>C
XM_011532830.1:c.308+99T>C (LHCGR)	XP_011531132.1:n.308+99T>C
XM_017004089.1:c.314+99T>C (LHCGR)	XP_016859578.1:n.314+99T>C
NM_000233.4:c.383+99T>C (LHCGR) MANE Select	NP_000224.2:n.383+99T>C
NM_001198593.2:c.3442-50703A>G (STON1-GTF2A1L)	NP_001185522.1:n.3442-50703A>G